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[Correlation between genotype and clinical phenotype in hypertrophic cardiomyopathy families with MYH7-R453C mutation].

Zhonghua xin xue guan bing za zhi - 24 Dec 2024

Wang Y, Wang B, Zhao X L, Liu J, Yuan J R, Zhao J, Zhang L L, Liang C T, Wang J, Liu L W

Abstract excerpt

Objective: To analyze the relationship between genotype and clinical phenotype of the MYH7-R453C mutation in five Chinese hypertrophic cardiomyopathy (HCM) families. Methods: A retrospective cohort study was conducted on 527 unrelated HCM probands who were first diagnosed at the First Affiliated Hospital of Air Force Medical University (Xijing Hospital) from February 2014 to July 2018, and the high-throughput...

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Identifiers

PMID: 39681440
DOI: 10.3760/cma.j.cn112148-20240821-00469

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